Evidence map›Paper›PMID 40384766›Full record

ArticleMolecular vision2025

Genetics and phenotypes of

Sarah Pereira de Freitas Cenachi, Maria Frasson, Virgínia Mares, Rodrigo Rezende Arantes, Anna Luiza Braga Albuquerque, Anna Laura Marques Nascentes, Luiz Armando Cunha De Marco, Márcio Bittar Nehemy

Abstract read
PubMed Full text at PMC
In one paragraph

Article in Molecular vision, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Article
  2. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Sarah Pereira de Freitas CenachiDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Maria FrassonDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Virgínia MaresDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Rodrigo Rezende ArantesGenetics Service, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Anna Luiza Braga AlbuquerqueDepartment of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Anna Laura Marques NascentesGenetics Service, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Luiz Armando Cunha De MarcoDepartment of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Márcio Bittar NehemyDepartment of Ophthalmology, Federal University of Minas Gerais, Belo Horizonte, Brazil.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Biallelic variants in the retinal pigment epithelium-specific 65-kDa protein ( Methods: LCA, EOSRD, and RP diagnoses were based on predefined clinical criteria. Patients underwent comprehensive clinical evaluations and retinal imaging. Genomic DNA was analyzed using a next-generation sequencing panel for IRDs, covering 238 genes. Results: Conclusions:

Indexed as

cis-trans-IsomerasesLeber Congenital AmaurosisMutationRetinal DegenerationRetinitis PigmentosaAdolescentAdultAllelesBrazilChildChild, PreschoolFemaleHomozygoteHumansInfantMalecis-trans-IsomerasesRetinoid Isomerohydrolase

Identifiers

PMID40384766
PMCPMC12085217

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.